A44E (p.Ala44Glu) variant of SMC3 (Q9UQE7)
A44E (p.Ala44Glu) in SMC3 (Q9UQE7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
A44E (p.Ala44Glu) variant details
- p.Ala44Glu
- gnomAD 10-110575336-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.893
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available